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Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
- Source :
-
International journal of medical sciences [Int J Med Sci] 2013 Apr 21; Vol. 10 (6), pp. 766-70. Date of Electronic Publication: 2013 Apr 21 (Print Publication: 2013). - Publication Year :
- 2013
-
Abstract
- Xeroderma pigmentosum-variant (XPV) is one type of XP, a rare autosomal recessive disorder, and caused by defects in the post replication repair machinery while nucleotide-excision repair (NER) is not impaired. In the present study, we reported a Chinese family with XPV phenotype, which was confirmed by histopathological results. Genetic variants were detected by polymerase chain reaction and exon sequencing. Furthermore, the reported molecular defects in XPV patients from previous literatures were reviewed. A homozygous c.67C>T mutation in the exon 2 of DNA polymerase eta (POLH), a novel non-sense mutation in POLH, was discovered.
Details
- Language :
- English
- ISSN :
- 1449-1907
- Volume :
- 10
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- International journal of medical sciences
- Publication Type :
- Academic Journal
- Accession number :
- 23630442
- Full Text :
- https://doi.org/10.7150/ijms.6095